ORPHA:98974
Fuchs endothelial corneal dystrophy
Synonyms: Endoepithelial corneal dystrophy · FECD · Late hereditary endothelial dystrophy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Multigenic/multifactorial, Not applicable
- Age of onset
- Adult
- Status
- active
A disorder that is the most frequent form of posterior corneal dystrophy and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fuchs endothelial corneal dystrophy | Endoepithelial corneal dystrophy · FECD · Late hereditary endothelial dystrophy |
| fr | Dystrophie cornéenne endothéliale de Fuchs | Dystrophie cornéenne endoépithéliale · Dystrophie endothéliale héréditaire tardive · FECD |
| de | Endotheliale Hornhautdystrophie Fuchs | FECD · Hornhautdystrophie, endo-epitheliale |
| es | Distrofia corneal endotelial de Fuchs | FECD · Distrofia corneal endoepitelial · Distrofia endotelial hereditaria tardía |
| it | Distrofia corneale endoteliale di Fuchs | Distrofia corneale endoepiteliale · Distrofia endoteliale ereditaria tardiva · FECD |
| nl | Endotheliale corneadystrofie van Fuchs | Endo-epitheliale corneadystrofie · FECD · Late erfelijke endotheliale dystrofie |
| pt | Distrofia corneana, endotelial de Fuchs | |
| pl | Dystrofia śródbłonka rogówki Fuchsa | Dystrofia śródbłonka rogówki · FECD · Późna dziedziczna dystrofia śródbłonka |
| cs | Fuchsova endotelová dystrofie rohovky | Endoepitelová dystrofie rohovky · FECD · Pozdní hereditární endotelová dystrofie |
| uk | Ендотеліальна дистрофія рогівки Фукса | Ендоепітеліальна дистрофія рогівки · FECD · Пізня спадкова ендотеліальна дистрофія |
| zh | Fuchs角膜内皮营养不良 | 晚发遗传性内皮营养不良 |
| tr | Fuchs endotelyal korneal distrofi | FECD · Endepitelyal korneal distrofi · Geç kalıtsal endotelyal distrofi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 136800 | BTNT | validated | |
| OMIM | 610158 | BTNT | validated | |
| OMIM | 613267 | BTNT | validated | |
| OMIM | 613268 | BTNT | validated | |
| OMIM | 613269 | BTNT | validated | |
| OMIM | 613270 | BTNT | validated | |
| OMIM | 613271 | BTNT | validated | |
| OMIM | 615523 | BTNT | validated | |
| ICD-10 | H18.5 | NTBT | inclusion | validated |
| ICD-11 | 9A70.0 | NTBT | index | validated |
| MONDO | 0005321 | E | validated | |
| MeSH | D005642 | E | validated | |
| UMLS | C0016781 | E | validated | |
| GARD | 10018 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98627Posterior corneal dystrophy
rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ZEB1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11642 | ENSG00000148516 | 189909 | 10p11.22 | zinc finger E-box binding homeobox 1 | 20036349[PMID] |
| AGBL1 | Disease-causing germline mutation(s) in | Assessed | HGNC:26504 | ENSG00000273540 | 615496 | 15q25.3 | AGBL carboxypeptidase 1 | 24094747[PMID] |
| COL8A2 | Disease-causing germline mutation(s) in | Assessed | HGNC:2216 | ENSG00000171812 | 120252 | 1p34.3 | collagen type VIII alpha 2 chain | 18464802[PMID] |
| SLC4A11 | Disease-causing germline mutation(s) in | Assessed | HGNC:16438 | ENSG00000088836 | 610206 | 20p13 | solute carrier family 4 member 11 | 20848555[PMID] |
| TCF4 | Disease-causing germline mutation(s) in | Assessed | HGNC:11634 | ENSG00000196628 | 602272 | 18q21.2 | transcription factor 4 | 23185296[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
9 annotations · validated 2021-10-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011490 | Abnormal Descemet membrane morphology | |
| HP:0011488 | Abnormal corneal endothelium morphology | |
| HP:0007957 | Corneal opacity | |
| HP:0000969 | Edema | |
| HP:0011491 | Reduced number of corneal endothelial cells | |
| HP:0007663 | Reduced visual acuity | |
| Frequent (79-30%) | ||
| HP:0030857 | Eye movement-induced pain | |
| HP:0000662 | Nyctalopia | |
| HP:0000572 | Visual loss | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 31215821[PMID]_31267087[PMID]_31263352[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98974
- This record as JSON: /data/d/98974.json